Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure

Fertil Steril. 2007 Nov;88(5):1474-6. doi: 10.1016/j.fertnstert.2007.01.021. Epub 2007 May 7.

Abstract

We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr). Nonsynonymous single-nucleotide polymorphisms c.436C>T and c.1283G>C were also detected in the control population. The c.712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alanine / genetics
  • Amino Acid Substitution / genetics
  • Asian People / genetics*
  • Bone Morphogenetic Protein 15
  • DNA Mutational Analysis / methods
  • Female
  • Growth Differentiation Factor 9
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Intercellular Signaling Peptides and Proteins / physiology
  • Mutation*
  • Polymorphism, Single Nucleotide / genetics
  • Primary Ovarian Insufficiency / diagnosis
  • Primary Ovarian Insufficiency / genetics*
  • Threonine / genetics

Substances

  • BMP15 protein, human
  • Bone Morphogenetic Protein 15
  • GDF9 protein, human
  • Growth Differentiation Factor 9
  • Intercellular Signaling Peptides and Proteins
  • Threonine
  • Alanine